シャルコー・マリー・トゥース病

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)	NAGLU	Pathogenic	17	40688432	40688432	T	C	criteria provided, single submitter	ClinGen:CA115052,UniProtKB:P54802#VAR_025489,OMIM:609701.0010
single nucleotide variant	NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)	NAGLU	Pathogenic	17	40693145	40693145	C	G	criteria provided, single submitter	ClinGen:CA115053,UniProtKB:P54802#VAR_025490,OMIM:609701.0011
single nucleotide variant	NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	NAGLU	Pathogenic/Likely pathogenic	17	40695468	40695468	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115054,UniProtKB:P54802#VAR_008987,OMIM:609701.0012
single nucleotide variant	NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)	NAGLU	Pathogenic	17	40690709	40690709	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115055,UniProtKB:P54802#VAR_054710,OMIM:609701.0013
Deletion	NM_014845.6(FIG4):c.294del (p.Phe98fs)	FIG4	Pathogenic	6	110048313	110048313	GT	G	criteria provided, single submitter	OMIM:609390.0002
single nucleotide variant	NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	FIG4	Pathogenic/Likely pathogenic	6	110056402	110056402	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251931,OMIM:609390.0003,OMIM:609390.0006
Deletion	NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)	FIG4	Pathogenic	6	110064881	110064888	GATCAGGCA	G	criteria provided, single submitter	OMIM:609390.0004
single nucleotide variant	NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	MFN2	Pathogenic	1	12052717	12052717	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252142,UniProtKB:O95140#VAR_018609,OMIM:608507.0001
single nucleotide variant	NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	MFN2	Pathogenic/Likely pathogenic	1	12071567	12071567	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252145,UniProtKB:O95140#VAR_018612,OMIM:608507.0002
single nucleotide variant	NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)	MFN2	Pathogenic	1	12052663	12052663	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252148,UniProtKB:O95140#VAR_018608,OMIM:608507.0003